Familial glioblastoma multiforme without neurofibromatosis.

Glioblastoma multiforme is a rapidly growing anaplastic primary tumor of the central nervous system. It is frequently associated with neurofibromatosis or other hamartomatous syndromes, and in such kindreds may be found in several generations. We describe a highly inbred family in which glioblastoma multiforme presents in males only as an isolated central nervous system neoplasm on the right side, without evidence of other underlying genetic disease. It is speculated that in this family the tumor develops as the consequence of an autosomal recessive or an X-linked recessive mutation. In addition, the gene for cystic fibrosis segregates in this family and an undefined autosomal recessive malformation syndrome was detected.